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PGT-M conditions

The page below lists all PGT-M conditions currently authorised and awaiting consideration by the HFEA.

When publishing genetic conditions on the authorised list, we aim to be as consistent as possible with the OMIM database. However, many conditions may have several different names and we would recommend searching the list using the OMIM number for the condition as this is less likely to change throughout time.

If a condition does not appear on the list, it does not necessarily mean the condition has specifically not been authorised, it may mean that we have never before received an application from a UK centre to perform PGT-M for this condition and it has therefore never been considered by the HFEA.

Please note that we are always processing new applications to add genetic conditions to the list from UK centres licensed to perform PGT-M. This may mean that some authorised conditions may not be displayed. If you are unsure if a condition has been authorised or not, or would like any further information please contact the PGTM team at pgtm@hfea.gov.uk.

Click here for a downloadable list: approved condition list. Please note that the website page below is updated more regularly and is therefore more accurate than the downloadable list.

Condition name Status OMIM number Documents
Aicardi-Goutières Syndrome 7 (AGS7) approved 615846
Aicardi-Goutières Syndrome 8 (AGS8) approved 619486
Aicardi-Goutières Syndrome 9 (AGS9) approved 619487
Alagille Syndrome 1 (ALGS1) approved 118450
Alexander Disease (ALXDRD) approved 203450
Allan-Herndon-Dudley Syndrome (AHDS) approved 300523
Alpha Thalassemia approved 141800
Alpha-1-antitrypsin deficiency approved +107400 (where two Z alleles are inherited)
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked (ATRX) approved 301040
Alport Syndrome 1, X-Linked (ATS1) approved 301050
Alport Syndrome 2, Autosomal Recessive (ATS2) approved 203780
Alport Syndrome 3, Autosomal Dominant (ATS3) approved 104200
Alstrom Syndrome; ALMS approved 203800
Alzheimer Disease, Familial, 1 (AD1) approved 104300
Alzheimer Disease, Familial, 3 (AD3) approved 607822
Alzheimer Disease, Familial, 4 (AD4) approved 606889
Amegakaryocytic Thrombocytopenia, Congenital, 1 (CAMT1) approved 604498
Amegakaryocytic Thrombocytopenia, Congenital, 2 (CAMT2) approved 620481
Amyotrophic Lateral Sclerosis 1 (ALS1) approved 105400
Amyotrophic Lateral Sclerosis 10 with or without Frontotemporal Dementia (ALS10) approved 612069